80 Case series of juvenile scleroderma at Aga Khan University Hospital, Nairobi

Abstract Background Juvenile scleroderma includes a range of conditions presenting with skin fibrosis. It’s classified into two major categories, localized and systemic. Juvenile localized scleroderma (morphea) is limited to the skin and forms majority of pediatric presentations (>95%). Though rare, juvenile systemic sclerosis involves the skin and other internal organs and is associated with a poorer prognosis. Objective To characterize the clinical profile of two cases of scleroderma at Aga Khan university hospital, Nairobi. Methods Retrospective review of medical records of two patients with Juvenile scleroderma managed at Aga Khan university hospital, Nairobi. Results The first patient was a 7-year-old boy presenting with joint pains for 2 months, restricted activities and limping. He also had a non-itchy lesion on the right thigh for about 6 years. On examination, there was an 8 by 18 cm, flat, shiny skin lesion with ill-defined margins and skin thickening around it. There were 2 punched out scars from previous skin biopsy sites with latest biopsy showing atrophic epidermis, dermal collagen homogenization with thick sclerosed fibers in keeping with morphea. Pulmonary function tests revealed mild restrictive lung disease. There were no other systems involved on further evaluation. He was started on weekly methotrexate, daily prednisone, daily folic acid and omeprazole to be followed up in clinic. The second case is a 5-year-old girl who presented with 3-year history of inability to walk. Physical examination revealed areas of skin hypopigmentation and hyperpigmentation on the neck and back with active lesions on the left flank and posterior right leg. She had left lower limb atrophy and extreme wasting of thigh and calf muscles, a contracture of the left knee, ankle and limb length discrepancy. Her investigations revealed positive rheumatoid factor, positive antinuclear antibody (ANA), microcytic hypochromic anaemia and skin biopsy with features of morphea. She received six courses of high dose methyl prednisone over six months, weekly methotrexate, daily folic acid, daily prednisone that was tapered off gradually, calcium supplementation and iron supplementation. In addition, she received isoniazid for tuberculosis prophylaxis with pyridoxine. Her management was multidisciplinary involving orthopedics, physiotherapy, occupational therapy, and dieticians. She developed a new skin lesion on the left forearm about five months after initiation of treatment but no worsening of symptoms or other new lesions thereafter. Conclusion Juvenile scleroderma though rare has a high risk of misdiagnosis with delay in initiation of treatment. It is associated with significant morbidity and early diagnosis, treatment and follow up is imperative for good outcomes.


Background
Juvenile scleroderma includes a range of conditions presenting with skin fibrosis. It's classified into two major categories, localized and systemic. Juvenile localized scleroderma (morphea) is limited to the skin and forms majority of pediatric presentations (>95%). Though rare, juvenile systemic sclerosis involves the skin and other internal organs and is associated with a poorer prognosis. Objective To characterize the clinical profile of two cases of scleroderma at Aga Khan university hospital, Nairobi. Methods Retrospective review of medical records of two patients with Juvenile scleroderma managed at Aga Khan university hospital, Nairobi.

Results
The first patient was a 7-year-old boy presenting with joint pains for 2 months, restricted activities and limping. He also had a non-itchy lesion on the right thigh for about 6 years. On examination, there was an 8 by 18 cm, flat, shiny skin lesion with ill-defined margins and skin thickening around it. There were 2 punched out scars from previous skin biopsy sites with latest biopsy showing atrophic epidermis, dermal collagen homogenization with thick sclerosed fibers in keeping with morphea. Pulmonary function tests revealed mild restrictive lung disease. There were no other systems involved on further evaluation. He was started on weekly methotrexate, daily prednisone, daily folic acid and omeprazole to be followed up in clinic. The second case is a 5-year-old girl who presented with 3-year history of inability to walk. Physical examination revealed areas of skin hypopigmentation and hyperpigmentation on the neck and back with active lesions on the left flank and posterior right leg. She had left lower limb atrophy and extreme wasting of thigh and calf muscles, a contracture of the left knee, ankle and limb length discrepancy. Her investigations revealed positive rheumatoid factor, positive antinuclear antibody (ANA), microcytic hypochromic anaemia and skin biopsy with features of morphea. She received six courses of high dose methyl prednisone over six months, weekly methotrexate, daily folic acid, daily prednisone that was tapered off gradually, calcium supplementation and iron supplementation. In addition, she received isoniazid for tuberculosis prophylaxis with pyridoxine. Her management was multidisciplinary involving orthopedics, physiotherapy, occupational therapy, and dieticians. She developed a new skin lesion on the left forearm about five months after initiation of treatment but no worsening of symptoms or other new lesions thereafter. Conclusion Juvenile scleroderma though rare has a high risk of misdiagnosis with delay in initiation of treatment. It is associated with significant morbidity and early diagnosis, treatment and follow up is imperative for good outcomes. Background RHUPUS syndrome is a rare association with rheumatoid arthritis and systemic lupus erythematosus (SLE) in adult patients. Its pediatric presentation is very rare and underdiagnosed. The mechanism is not well understood yet, but most theories accepted a real overlap between SLE and juvenile idiopathic arthritis. In children. Patients with Rhupus have clinical symptoms of SLE with positive ANA, anti-DNA or anti Sm associated with clinical symptoms of JIA. Objective Illustrate an unusual presentation of lupus in children Methods we present a case of juvenile rhupus syndrome; we describe the clinical presentation, the serological results, the diagnostic criteria for SLE (ACR 1997) and JIA (ILLA 2001) and the treatment installed.

Case reports
We recently diagnosed Rhupus syndrome in an 11-year-old girl who presented with polyarthritis deformans of the bilateral joints of the wrists, hands and feet for 24 months. she also had an onset of profound asthenia, recurrent oral aphtosis and massive hair loss over the past few months. Initial investigation showed anaemia, increased erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Radiographic examinations showed juxtra-articular osteopenia and chronic synovitis of the wrists. The autoimmune assessment was contributory with a positive rheumatoid factor (RF), antinuclear antibodies (ANA) (1/1000) and positive anti-Sm antibodies. Anticardiolipin and anti-RNP antibodies were negative. Our patient met >4 ACR criteria for SLE classification. She was treated with methotrexate and hydroxychloroquine, under close medical supervision in order to watch for the appearance of other organic damage to lupus disease, in particular renal and neurological. This type of joint damage is considered to be either lupus joint damage, lupus with chronic arthritis, or overlapping lupus with JIA. Children with Rhupus initially present with JIA and later develop lupus. Previous reports have shown female predominance, polyarticular involvement, non-erosive arthritis, and years of diagnostic wandering. Our patient had polyarthritis deformans with a two-year delay in diagnosis of SLE.

Conclusion
Although rare, the infantile Rhupus syndrome must be evoked in front of a deforming arthropathy. Background Juvenile dermatomyositis (JDM) is a very rare inflammatory myopathy with an approximate incidence of 2-4 per million. The discovery of specific circulating autoantibodies present in about 60% of cases has allowed them to be classified according to their clinical and immunological expressions and their therapeutic response. Anti-Melanoma differentiation associated gene5 (MDA5) antibodies seem to be correlated with a particular clinical phenotype associating cutaneous, respiratory, and articular involvement and most often sparing the muscles.

Observation
We report the case of an early-onset anti-MDA 5 JDM in a 27-monthold girl. The first symptoms appeared at the age of 18 months and consisted of a skin rash and muscle weakness complicated 6 months later by generalized oedema. The child received symptomatic treatments without improvement. At 27 months of age, the child worsened and was admitted for respiratory distress. On clinical examination, she presented with fever and general deterioration, respiratory impairment with swallowing problems, skin damage with specific ulcerations, very significant generalized oedema, and severe muscle damage with axial hypotonia and myogenic EMG tracing. The inflammatory workup was positive and the autoimmune workup revealed 1/320 speckled antinuclear antibody (ANA) and positive anti-MDA5 anti bodies. Chest CT scan showed right interstitial lung disease. The diagnosis of anti-MDA5 JDM was retained and the child was treated with corticosteroids pulses associated with immunoglobulins and methotrexate (MTX) leading to a clear improvement. Corticosteroids and MTX were maintained on a long-term basis.

Discussion
The prevalence of anti-MDA5 anti bodies is variable and depends on ethnic origin (7% in an English cohort vs 38% in the Japanese cohort). These antibodies seem to be specific to a particular phenotype of DM associating skin involvement, interstitial lung disease with little or no muscle involvement. The originality of this observation lies in the early age of onset of JDM and in the fact that it expresses the anti-MDA5 antibodies. The skin and muscle involvement was prominent in our patient, while the pulmonary involvement, although not rapidly progressive, justified the combination of bolus methylprednisolone, MTX and immunoglobulins. Despite the delay in diagnosis, we noted a good therapeutic response and stabilization of the disease. Conclusion Anti-MDA 5 antibodies must be identified as soon as JDM is diagnosed; their presence is a risk factor for severe lung damage,

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